Thg1l gene
WebUsing whole exome sequencing, we identified homozygous p.Val55Ala in the THG1L (tRNA-histidine guanylyltransferase 1 like) gene in three siblings who presented with cerebellar … WebFunctional Associations. THG1L has 3,279 functional associations with biological entities spanning 8 categories (molecular profile, organism, chemical, functional term, phrase or reference, disease, phenotype or trait, structural feature, cell line, cell type or tissue, gene, protein or microRNA) extracted from 60 datasets.
Thg1l gene
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WebIn 3 sibs of Ashkenazi Jewish descent with SCAR28, Edvardson et al. (2016) identified a homozygous missense mutation in the THG1L gene (V55A; 618802.0001).The mutation, … WebTHG1L. General description of the gene and the encoded protein (s) using information from HGNC and Ensembl, as well as predictions made by the Human Protein Atlas project. …
WebGross (2024) mapped the THG1L gene to chromosome 5q33.3 based on an alignment of the THG1L sequence (GenBank BC001852) with the genomic sequence (GRCh38). Gene … WebAdds a GMP to the 5'-end of tRNA(His) after transcription and RNase P cleavage. This step is essential for proper recognition of the tRNA and for the fidelity of protein synthesis. The …
Web15 Jun 2016 · Using whole exome sequencing, we identified homozygous p.Val55Ala in the THG1L (tRNA-histidine guanylyltransferase 1 like) gene in three siblings who presented … WebTHG1L - Sequence 1 GENE 1 ISO 27 REF Gold Only Extend overview THG1L → Probable tRNA (His) guanylyltransferase [ EC 2.7.7.79 ] Protein also known as : Interphase …
Webprotein-coding gene in the species Homo sapiens. THG1L (Q18041438) Q18041438)
Web16 Dec 2024 · Full Name tRNA-histidine guanylyltransferase 1 like Location Chromosome 5 (5q33.3) Function The THG1L gene codes for a protein involved in the modification of … medicare comparison plans chartWebHuman diseases caused by Thg1l mutations. The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in … light vehicle definition victoriaWeb15 Apr 2024 · genes in panel. prev next aaas 2 abhd12 3 adcy5 3 afg3l2 3 ano10 3 aptx 2 armc9 2 arsa 3 atcay 3 atm 2 atp1a2 3 atp1a3 3 atp7b 3 auh 3 b3galnt2 2 brf1 2 ca8 2 … light vehicle driver cv pdfWebTHG1L. Return to list. Help. Gene Symbol: THG1L. HGNC:26053. Locus Group: protein-coding gene. Locus Type: gene with protein product. Location: 5q33.3. ... if you have … medicare competency test ahipWeb1 Oct 2016 · A mutation in the THG1L gene in a family with cerebellar ataxia and developmental delay. 6: 21078997: 2010: Crystal structure of a reverse polymerase. 2: … medicare compensation third party authorityWebThe GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants). GENCODE basic, ENST00000521655.1: … medicare comparison of part d plansWebHPO- gene associations for all patients included in the study (n=2,023) in addition to pediatric molecularly diagnosed patients from mitochondrial disease registries (mitoNET and Besta, n=318) and from literature reports (n=1,599) are provided on the patient- (n=3,940, 3,026 molecularly diagnosed), gene- (n=427), and variant level (available for … light vehicle